Canonical Allele Identifier: CA1397090751
Gene: HGD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633274T= , CM000665.2:g.120633274T= GRCh38
NC_000003.11:g.120352121T= , CM000665.1:g.120352121T= GRCh37
NC_000003.10:g.121834811T= NCBI36
NG_011957.1:g.54208A=

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1061A= MANE Select ENSP00000283871.5:p.Gln354=
ENST00000283871.9:c.1061A= ENSP00000283871.5:p.Gln354=
ENST00000470321.1:n.401A=
ENST00000492108.5:c.340A= ENSP00000419838.1:n.340A=
NM_000187.3:c.1061A= NP_000178.2:p.Gln354=
XM_005247412.1:c.836A= XP_005247469.1:p.Gln279=
XM_005247412.2:c.836A= XP_005247469.1:p.Gln279=
XM_017006277.2:c.638A= XP_016861766.1:p.Gln213=
NM_000187.4:c.1061A= MANE Select NP_000178.2:p.Gln354=